scholarly journals Genetic Testing Integration Panels (GTIPs): A Novel Approach for Considering Integration of Direct-To-Consumer and Other New Genetic Tests into Patient Care

2012 ◽  
Vol 21 (3) ◽  
pp. 374-381 ◽  
Author(s):  
Wendy R. Uhlmann ◽  
Richard R. Sharp
2012 ◽  
Vol 5 (1) ◽  
pp. 35-67 ◽  
Author(s):  
Richard A. Stein

Genetics has fascinated societies since ancient times, and references to traits or behaviors that appear to be shared or different among related individuals have permeated legends, literature, and popular culture. Biomedical advances from the past century, and particularly the discovery of the DNA double helix, the increasing numbers of links that were established between mutations and medical conditions or phenotypes, and technological advances that facilitated the sequencing of the human genome, catalyzed the development of genetic testing. Genetic tests were initially performed in health care facilities, interpreted by health care providers, and included the availability of counseling. Recent years have seen an increased availability of genetic tests that are offered by companies directly to consumers, a phenomenon that became known as direct-to-consumer genetic testing. Tests offered in this setting range from the ones that are also provided in health care establishments to tests known as ‘recreational genomics,’ and consumers directly receive the test results. In addition, testing in this context often does not involve the availability of counseling and, when this is provided, it frequently occurs on-line or over the phone. As a field situated at the interface between biotechnology, biomedical research, and social sciences, direct-to-consumer genetic testing opens multiple challenges that can be appropriately addressed only by developing a complex, inter-disciplinary framework.


Author(s):  
Jessie Conta ◽  
Cheryl Hess ◽  
Jacquelyn Riley

Recently, hospital laboratories have significantly improved patient care by intercepting genetic tests that have been ordered in error or inappropriately. Such tests can be flagged before they are sent out to referral laboratories for testing. This is commonly performed by genetic counselors acting in support of test utilization management. This chapter details the role of the test utilization counselor. Multiple methods are described for developing and implementing a hospital-based test utilization management program for genetic testing.


2017 ◽  
Vol 24 (2) ◽  
pp. 175-197 ◽  
Author(s):  
Juan María Martínez Otero

The rapid advance of genetics increases the availability in the market of different genetic tests, which can be acquired directly by consumers without the intermediation of a healthcare professional. Both the European and the Spanish legal framework have restricted the access to these direct-to-consumer (dtc) genetic tests on the grounds of different reasons, such as the protection of consumers or the preservation of public health. The present article discusses these legal restrictions under the light of the right to information.


2020 ◽  
pp. 161-169
Author(s):  
Madison K. Kilbride ◽  
Angela R. Bradbury

PURPOSE Recent years have seen direct-to-consumer (DTC) genetic testing for cancer susceptibility change dramatically. For one, a new model now dominates the market where tests are advertised to consumers but ordered by physicians. For another, many of today’s tests are distinguished from earlier DTC offerings for cancer susceptibility by their scope and potential clinical significance. This review provides a comprehensive overview of available DTC genetic tests for cancer susceptibility and identifies aspects of the DTC testing process that could affect consumers’ ability to make informed decisions about testing and understand their results. METHODS First, we provide an overview of each DTC genetic test for cancer susceptibility that includes information about cost; who orders it; whether variants of uncertain significance are returned; availability of genetic counseling; intended users; management of variant reclassifications; whether it is characterized as diagnostic, actionable, and clinically valid; molecular technique used; and Clinical Laboratory Improvement Amendments/College of American Pathologists status. Second, we identify six aspects of the testing process that could affect consumers’ ability to make informed decisions about testing and interpret their results: How companies use certain terms (eg, medical grade or clinical grade); how companies use consumers’ health information during the ordering process; the extent of genetic counseling provided by companies; companies’ procedures for returning results; the role of company-provided ordering physicians; and companies’ procedures for communicating variant reclassifications. RESULTS On the basis of our review of companies’ Web sites, we believe that consumers would benefit from more information about these aspects of testing. CONCLUSION Providing this information would help consumers make informed decisions about whether to use a particular DTC genetic testing service and, should they choose to pursue testing, understand the implications and limitations of their results.


2015 ◽  
Vol 22 (5) ◽  
pp. 463-480 ◽  
Author(s):  
Santa Slokenberga

Rapid advances in genomics and technology have rendered genetic testing services easily accessible to consumers over the Internet in the form of direct-to-consumer genetic testing. In the eu, the ivd Directive has been animadverted for its inability to tackle the challenges direct-to-consumer genetic testing has posed. Currently, the eu legislation is in a transition state. It is thus, timely to assess, to what extent the proposed ivd Regulation is intended to address the performance requirements and utility of direct-to-consumer genetic tests, which are made available to consumers within the eu over the Internet, and discuss the developments vis-à-vis the ivd Directive. To compare with the ivd Directive, the ivd Regulation presents a major shift in how direct-to-consumer genetic testing is treated in the eu. It remains unclear, whether and how the eu requirements can be applied beyond the eu market.


2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Lila J. Finney Rutten ◽  
Sarah E. Gollust ◽  
Sana Naveed ◽  
Richard P. Moser

Uncertainty around the value of and appropriate regulatory models for direct-to-consumer (DTC) genetic testing underscores the importance of tracking public awareness of these services. We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n=7,674) and 2011 (n=3,959) to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore sociodemographic, health care, Internet use, and population density correlates. Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR=1.39) even when adjusted for sociodemographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50–64 (OR=1.64), and 65–74 (OR=1.60); college graduates (OR=2.02); those with a regular source of health care (OR=1.27); those with a prior cancer diagnosis (OR=1.24); those who use the Internet (OR=1.27); and those living in urban areas (OR=1.25). Surveillance of awareness—along with empirical data on use of and response to genetic risk information—can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing.


Author(s):  
Kara D. Burnham ◽  
Leslie A.K. Takaki

Objective To determine if an existing course in genetics should be revised to refocus on the topic of genomics and its impact on health and primary care, a survey of chiropractors was conducted regarding genomics and patient care. Methods A short survey was designed to ascertain chiropractors' knowledge and use of genomics in their practices, particularly regarding direct to consumer genetic testing. Nine closed-ended questions and 2 open-ended questions were included. Pearson correlation was used to evaluate relationships between close-ended responses. Content analysis was conducted on the final open-ended question that queried respondents for further comments. Results There were 181 completed surveys returned. Patients do ask chiropractors about their own direct to consumer genetic testing results—42% indicated that they are approached by patients 1–3 times per month to discuss genetics/genomics. Knowledge of genomics varies among chiropractors, yet 51% feel that teaching genomics is moderately (31%) or extremely (20%) important. Conclusion An introductory course in clinical genomics is necessary to prepare a chiropractor for patient care.


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